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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


53 records found for search term Klk4
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11542819CV257198single nucleotide variantNM_004917.5(KLK4):c.*19C>Tnot provided [RCV001709542]|not specified [RCV000241643]benign195090691550906915Humanname
150452338CV1276718single nucleotide variantNM_004917.5(KLK4):c.61+28T>Anot provided [RCV001708507]benign195091065050910650Humanname
405710552CV3225708single nucleotide variantNM_004917.5(KLK4):c.224+2T>CAmelogenesis imperfecta type 2A1 [RCV003990766]likely pathogenic195090925050909250Human1name
150430413CV1230867single nucleotide variantNM_004917.5(KLK4):c.61+144C>Tnot provided [RCV001641416]benign195091053450910534Humanname
150486847CV1237236single nucleotide variantNM_004917.5(KLK4):c.612+50G>Anot provided [RCV001654084]benign195090830950908309Humanname
150477707CV1252054single nucleotide variantNM_004917.5(KLK4):c.61+132C>Gnot provided [RCV001672254]benign195091054650910546Humanname
150449643CV1260848single nucleotide variantNM_004917.5(KLK4):c.62-169C>Anot provided [RCV001680517]benign195090958350909583Humanname
150448306CV1275521single nucleotide variantNM_004917.5(KLK4):c.224+92C>Gnot provided [RCV001707976]benign195090916050909160Humanname
150455767CV1278401single nucleotide variantNM_004917.5(KLK4):c.613-56C>Tnot provided [RCV001709016]benign195090714250907142Human1name
150455767CV1278401single nucleotide variantNM_004917.5(KLK4):c.613-56C>Tnot provided [RCV001709016]benign195090714250907143Human1name
150331700CV1163665deletionNM_004917.5(KLK4):c.224+142delnot provided [RCV001527910]benign195090911050909110Humanname
150495860CV1225180single nucleotide variantNM_004917.5(KLK4):c.612+286C>Tnot provided [RCV001619658]benign195090807350908073Humanname
150468638CV1243028single nucleotide variantNM_004917.5(KLK4):c.224+193T>Cnot provided [RCV001650546]benign195090905950909059Humanname
150489188CV1250507single nucleotide variantNM_004917.5(KLK4):c.613-129T>Cnot provided [RCV001674470]benign195090721550907215Humanname
150458398CV1269629single nucleotide variantNM_004917.5(KLK4):c.612+227A>Gnot provided [RCV001693169]benign195090813250908132Humanname
150495779CV1272717single nucleotide variantNM_004917.5(KLK4):c.224+182G>Cnot provided [RCV001688640]benign195090907050909070Humanname
11545339CV257199single nucleotide variantNM_004917.5(KLK4):c.591= (p.Gln197=)not provided [RCV001618435]|not specified [RCV000245001]benign195090838050908380Humanname
11549087CV257200single nucleotide variantNM_004917.5(KLK4):c.66G>T (p.Ser22=)not provided [RCV001610654]|not specified [RCV000249960]benign195090941050909410Humanname
405284785CV3190841single nucleotide variantNM_004917.5(KLK4):c.39G>T (p.Gly13=)KLK4-related disorder [RCV003909407]likely benign195091070050910700Humanname , trait , alternate_id
15107546CV716633single nucleotide variantNM_004917.5(KLK4):c.297C>A (p.Ala99=)not provided [RCV000960311]benign195090875750908757Human1name
15107546CV716633single nucleotide variantNM_004917.5(KLK4):c.297C>A (p.Ala99=)not provided [RCV000960311]benign195090875750908758Human1name
150471096CV1248150single nucleotide variantNM_004917.5(KLK4):c.64T>G (p.Ser22Ala)not provided [RCV001671187]benign195090941250909412Humanname
10042286CV187180deletionNM_004917.5(KLK4):c.245del (p.Gly82fs)Amelogenesis imperfecta type 2A1 [RCV000169728]pathogenic|not provided195090880950908809Human1name
156074437CV2281441single nucleotide variantNM_004917.5(KLK4):c.65C>G (p.Ser22Trp)Inborn genetic diseases [RCV002868891]uncertain significance195090941150909411Human1name
401910717CV2818691single nucleotide variantNM_004917.5(KLK4):c.756G>A (p.Gln252=)KLK4-related disorder [RCV003946583]|not provided [RCV003425386]likely benign195090694350906943Human1name , trait , alternate_id
15128392CV716632single nucleotide variantNM_004917.5(KLK4):c.300C>T (p.Ser100=)not provided [RCV000964076]benign195090875450908754Humanname
153000907CV1318202single nucleotide variantNM_004917.5(KLK4):c.170C>A (p.Ser57Ter)Amelogenesis imperfecta [RCV002254673]pathogenic195090930650909306Human2name
155930919CV2361287single nucleotide variantNM_004917.5(KLK4):c.253A>G (p.Ser85Gly)Inborn genetic diseases [RCV002684156]uncertain significance195090880150908801Human1name
11582141CV272347deletionNM_004917.5(KLK4):c.632del (p.Leu211fs)Amelogenesis imperfecta type 2A1 [RCV000399535]|not provided [RCV000726118]pathogenic195090706750907067Human1name
401894580CV2788136single nucleotide variantNM_004917.5(KLK4):c.120C>G (p.His40Gln)Inborn genetic diseases [RCV003371542]uncertain significance195090935650909356Human1name
598183137CV3983842single nucleotide variantNM_004917.5(KLK4):c.295G>A (p.Ala99Thr)Inborn genetic diseases [RCV005352848]uncertain significance195090875950908759Human1name
153000906CV1318201single nucleotide variantNM_004917.5(KLK4):c.637T>C (p.Cys213Arg)Amelogenesis imperfecta [RCV002254672]pathogenic195090706250907062Human2name
8597022CV21118single nucleotide variantNM_004917.5(KLK4):c.458G>A (p.Trp153Ter)Amelogenesis imperfecta type 2A1 [RCV000006452]|not provided [RCV004719629]pathogenic|likely pathogenic195090859650908596Human1name
156164920CV2243412single nucleotide variantNM_004917.5(KLK4):c.506A>G (p.Asn169Ser)Inborn genetic diseases [RCV002787723]uncertain significance195090846550908465Human1name
155987113CV2259437single nucleotide variantNM_004917.5(KLK4):c.545A>G (p.Tyr182Cys)Inborn genetic diseases [RCV002793358]uncertain significance195090842650908426Human1name
156019733CV2272684single nucleotide variantNM_004917.5(KLK4):c.581G>A (p.Gly194Asp)Inborn genetic diseases [RCV002844502]uncertain significance195090839050908390Human1name
156396685CV2330211single nucleotide variantNM_004917.5(KLK4):c.443G>A (p.Cys148Tyr)Inborn genetic diseases [RCV002945043]uncertain significance195090861150908611Human1name
156104157CV2386948single nucleotide variantNM_004917.5(KLK4):c.485C>T (p.Pro162Leu)Inborn genetic diseases [RCV002739294]uncertain significance195090848650908486Human1name
243055454CV2419318single nucleotide variantNM_004917.5(KLK4):c.443G>T (p.Cys148Phe)Amelogenesis imperfecta type 2A1 [RCV003155003]uncertain significance195090861150908611Human1name
401759933CV2698679single nucleotide variantNM_004917.5(KLK4):c.474C>G (p.Asn158Lys)Inborn genetic diseases [RCV003280332]uncertain significance195090858050908580Human1name
401725289CV2726100single nucleotide variantNM_004917.5(KLK4):c.412G>T (p.Ala138Ser)Inborn genetic diseases [RCV003268914]uncertain significance195090864250908642Human1name
405814073CV3276417single nucleotide variantNM_004917.5(KLK4):c.641A>G (p.Asn214Ser)Inborn genetic diseases [RCV004409653]uncertain significance195090705850907058Human1name
597686112CV3700905single nucleotide variantNM_004917.5(KLK4):c.583G>C (p.Gly195Arg)Inborn genetic diseases [RCV004984095]uncertain significance195090838850908388Human1name
597686121CV3700906single nucleotide variantNM_004917.5(KLK4):c.741A>G (p.Ile247Met)Inborn genetic diseases [RCV004984096]uncertain significance195090695850906958Human1name
597686128CV3700907single nucleotide variantNM_004917.5(KLK4):c.596A>C (p.Gln199Pro)Inborn genetic diseases [RCV004984097]uncertain significance195090837550908375Human1name
598161926CV3983841single nucleotide variantNM_004917.5(KLK4):c.341C>T (p.Ala114Val)Inborn genetic diseases [RCV005368533]uncertain significance195090871350908713Human1name
15187162CV728371single nucleotide variantNM_004917.5(KLK4):c.476G>A (p.Gly159Asp)not provided [RCV000887179]benign195090849550908495Humanname
8636950CV92175single nucleotide variantNM_004917.4(KLK4):c.475G>A (p.Gly159Ser)Malignant melanoma [RCV000072273]not provided195090857950908579Humanname
40887872CV966137single nucleotide variantNM_004917.5(KLK4):c.680C>T (p.Pro227Leu)Inborn genetic diseases [RCV001267428]|Male infertility [RCV001283740]|not provided [RCV004692359]uncertain significance195090701950907019Human4name
40887872CV966137single nucleotide variantNM_004917.5(KLK4):c.680C>T (p.Pro227Leu)Inborn genetic diseases [RCV001267428]|Male infertility [RCV001283740]|not provided [RCV004692359]uncertain significance195090701950907020Human4name
40887874CV974178single nucleotide variantNM_004917.5(KLK4):c.697G>A (p.Val233Met)Inborn genetic diseases [RCV001267429]|KLK4-related disorder [RCV003928807]likely benign|uncertain significance195090700250907002Human3name , trait , alternate_id
40887874CV974178single nucleotide variantNM_004917.5(KLK4):c.697G>A (p.Val233Met)Inborn genetic diseases [RCV001267429]|KLK4-related disorder [RCV003928807]likely benign|uncertain significance195090700250907003Human3name , trait , alternate_id
150520273CV1289213microsatelliteNM_004917.5(KLK4):c.620_621del (p.Ser207fs)Amelogenesis imperfecta type 2A1 [RCV001728053]likely pathogenic195090707850907079Humanname